Canonical Allele Identifier: CA381701465

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 1675468
• ClinVar RCV Id: RCV002211197 ; RCV003507402
• dbSNP Id: rs1949268223
• gnomAD v4: 11-71435592-C-T
• MyVariant Identifiers: chr11:g.71146638C>T (hg19) ; chr11:g.71435592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435592C>T , CM000673.2:g.71435592C>T	GRCh38
NC_000011.9:g.71146638C>T , CM000673.1:g.71146638C>T	GRCh37
NC_000011.8:g.70824286C>T	NCBI36
NG_012655.2:g.17840G>A , LRG_340:g.17840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1211G>A	ENSP00000435707.3:p.Arg404His
ENST00000526780.6:c.1211G>A	ENSP00000435668.2:p.Arg404His
ENST00000527316.6:c.1037G>A	ENSP00000435047.2:p.Arg346His
ENST00000682708.1:c.1262G>A	ENSP00000506866.1:p.Arg421His
ENST00000683287.1:c.1247G>A	ENSP00000507607.1:p.Arg416His
ENST00000683714.1:c.1219G>A	ENSP00000508207.1:p.Ala407Thr
ENST00000684396.1:n.1251G>A
ENST00000685320.1:c.626G>A	ENSP00000509319.1:p.Arg209His
ENST00000690257.1:c.1115G>A	ENSP00000510750.1:p.Arg372His
ENST00000355527.8:c.1211G>A MANE Select	ENSP00000347717.4:p.Arg404His
ENST00000355527.7:c.1211G>A	ENSP00000347717.3:p.Arg404His
ENST00000407721.6:c.1211G>A	ENSP00000384739.2:p.Arg404His
ENST00000525137.1:c.712G>A	ENSP00000435956.1:p.Ala238Thr
ENST00000533800.5:c.461G>A	ENSP00000435011.1:p.Arg154His
ENST00000534795.5:c.319+2220G>A
NM_001163817.1:c.1211G>A	NP_001157289.1:p.Arg404His
NM_001360.2:c.1211G>A , LRG_340t1:c.1211G>A	NP_001351.2:p.Arg404His
XM_011544777.1:c.1345G>A	XP_011543079.1:p.Ala449Thr
XM_011544777.2:c.1345G>A	XP_011543079.1:p.Ala449Thr
NM_001163817.2:c.1211G>A	NP_001157289.1:p.Arg404His
NM_001360.3:c.1211G>A MANE Select	NP_001351.2:p.Arg404His